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1970, 1st ed., ISBN 0444100598, Volume 10., xiv, 699
Book
2013, ISBN 0300182759, 256
Book
BRAIN, ISSN 0006-8950, 07/2006, Volume 129, pp. 1685 - 1692
We studied 26 patients belonging to 20 families with a disorder caused by mutations in the POLG gene. The patients were homozygous for 1399 G/A or 2243 G/C... 
Alpers | PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA | ataxia | hepatic | POLYMERASE-GAMMA MUTATIONS | ALPERS-SYNDROME | mitochondrial | POLG MUTATIONS | DELETIONS | NEUROSCIENCES | CLINICAL NEUROLOGY | POLG
Journal Article
Methods, ISSN 1046-2023, 2010, Volume 51, Issue 4, pp. 364 - 373
Journal Article
Journal Article
Neurotherapeutics, ISSN 1933-7213, 4/2013, Volume 10, Issue 2, pp. 186 - 198
Mitochondrial DNA (mtDNA) depletion syndromes (MDS) are a genetically and clinically heterogeneous group of autosomal recessive disorders that are... 
Neurology | Neurosciences | Biomedicine | Neurobiology | Mitochondrial encephalomyopathy | Mitochondrial neurogastrointestinal (MNGIE) disease | Mitochondrial myopathy | Neurosurgery | Hepatocerebral syndrome | Alpers-Huttenlocher syndrome | POLYMERASE-GAMMA-A | CORRECTS BIOCHEMICAL DERANGEMENTS | ONSET SPINOCEREBELLAR ATAXIA | NEUROSCIENCES | CLINICAL NEUROLOGY | PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA | RESPIRATORY-CHAIN DEFICIENCY | MULTIPLE MTDNA DELETIONS | NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY MNGIE | ALPERS-SYNDROME | PHARMACOLOGY & PHARMACY | DEOXYGUANOSINE KINASE-DEFICIENCY | STEM-CELL TRANSPLANTATION | Mitochondrial Diseases - genetics | Liver Transplantation | DNA, Mitochondrial - metabolism | Humans | Mitochondrial Encephalomyopathies - genetics | DNA, Mitochondrial - physiology | Mutation - genetics | Nervous System Diseases - genetics | Nucleotides - metabolism | Mitochondrial Myopathies - pathology | Mitochondrial Myopathies - therapy | Nervous System Diseases - therapy | Mitochondrial Encephalomyopathies - pathology | Mutation - physiology | Mitochondrial Myopathies - genetics | DNA, Mitochondrial - genetics | Mitochondrial Encephalomyopathies - therapy | DNA Replication - physiology | DNA Replication - genetics | Nervous System Diseases - physiopathology | Mitochondrial Diseases - therapy | Mitochondrial Diseases - physiopathology | Nutritional Support | Thymidine - metabolism | Genetic aspects | Mitochondrial DNA | Health aspects | Genes | Medical genetics | Review
Journal Article
Brain, ISSN 0006-8950, 2006, Volume 129, Issue 7, pp. 1674 - 1684
Journal Article
1995, Hatıra serisi, ISBN 975362185X, Volume 10, 518
Book
Journal Article
Representations, ISSN 0734-6018, 11/2013, Volume 124, Issue 1, pp. 136 - 141
Journal Article
Journal Article
Journal Article
Pediatric neurology, ISSN 0887-8994, 3/2013, Volume 48, Issue 3, pp. 167 - 178
Alpers-Huttenlocher syndrome is an uncommon mitochondrial disease most often associated with mutations in the mitochondrial DNA replicase, polymerase gamma.... 
Alpers syndrome | DNA polymerase gamma | cerebrohepatopathy | Alpers-Huttenlocher syndrome | mitochondrial disease | mitochondrial DNA depletion
Journal Article
Brain Pathology, ISSN 1015-6305, 01/2019, Volume 29, Issue 1, pp. 97 - 113
Journal Article